CFD, complement factor D, 1675

N. diseases: 83; N. variants: 4
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0398764
Disease: Complement Factor D Deficiency
Complement Factor D Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 1 3 0.700 strong 1.000 2 3 2006 2018
CUI: C0333099
Disease: Fusiform Aneurysm
Fusiform Aneurysm 		disease Cardiovascular Diseases Anatomical Abnormality 2 0.010 None 1.000 1 2018 2018
CUI: C0851883
Disease: Neisseria infection
Neisseria infection 		disease Infections Disease or Syndrome 2 0.010 None 1.000 1 1989 1989
CUI: C0085396
Disease: Neisseriaceae Infections
Neisseriaceae Infections 		group Infections Disease or Syndrome 3 0.300 None 1.000 1 2001 2001
CUI: C0003907
Disease: Arthus Reaction
Arthus Reaction 		disease Immune System Diseases Disease or Syndrome 12 0.200 None 1.000 1 2000 2000
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 13 1 0.010 None 1.000 1 2019 2019
CUI: C2930617
Disease: Pulmonary Fibrosis - from Asbestos Exposure
Pulmonary Fibrosis - from Asbestos Exposure 		disease Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome 14 0.300 None 1.000 1 2012 2012
CUI: C0016065
Disease: Polyostotic fibrous dysplasia
Polyostotic fibrous dysplasia 		disease Musculoskeletal Diseases Congenital Abnormality 18 2 0.010 None 1.000 1 2019 2019
CUI: C0003257
Disease: Antibody Deficiency Syndrome
Antibody Deficiency Syndrome 		disease Immune System Diseases Disease or Syndrome 21 0.300 None 1.000 2 2001 2006
CUI: C0008733
Disease: Chylothorax
Chylothorax 		disease Respiratory Tract Diseases Disease or Syndrome 23 2 0.010 None 1.000 1 2017 2017
CUI: C1704377
Disease: Bright Disease
Bright Disease 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 0.300 None 1.000 1 2004 2004
CUI: C0010093
Disease: Corpus Luteum Cyst
Corpus Luteum Cyst 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 36 0.300 None 1.000 1 2011 2011
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 42 0.400 strong 1.000 1 2018 2018
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases 		group Cardiovascular Diseases Disease or Syndrome 43 2 0.010 None 1.000 1 2018 2018
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		disease Musculoskeletal Diseases Disease or Syndrome 45 10 0.010 None 1.000 1 2019 2019
CUI: C0003949
Disease: Asbestosis
Asbestosis 		disease Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome 47 2 0.300 None 1.000 1 2012 2012
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		disease Congenital Abnormality 53 5 0.010 None 1.000 1 2019 2019
CUI: C0917996
Disease: Cerebral Aneurysm
Cerebral Aneurysm 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 65 3 0.010 None 1.000 1 2017 2017
CUI: C0025303
Disease: Meningococcal Infections
Meningococcal Infections 		group Infections Disease or Syndrome 69 32 0.310 None 1.000 1 2006 2006
CUI: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection 		phenotype Infections Finding 69 0.100 None 0
CUI: C0029927
Disease: Ovarian Cysts
Ovarian Cysts 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 74 3 0.300 None 1.000 1 2011 2011
CUI: C2745963
Disease: Kashin-Beck Disease
Kashin-Beck Disease 		disease Musculoskeletal Diseases Disease or Syndrome 77 43 0.010 None 1.000 1 2015 2015
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		disease Eye Diseases Disease or Syndrome 85 81 0.020 None 0.500 2 2014 2019
CUI: C4721507
Disease: Alveolitis, Fibrosing
Alveolitis, Fibrosing 		disease Respiratory Tract Diseases Disease or Syndrome 91 4 0.300 None 1.000 1 2012 2012
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 92 10 0.010 None 1.000 1 2017 2017